U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TMEM107 transmembrane protein 107 [ Homo sapiens (human) ]

Gene ID: 84314, updated on 2-Nov-2024

Summary

Official Symbol
TMEM107provided by HGNC
Official Full Name
transmembrane protein 107provided by HGNC
Primary source
HGNC:HGNC:28128
See related
Ensembl:ENSG00000179029 MIM:616183; AllianceGenome:HGNC:28128
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MKS13; JBTS29; GRVS638; PRO1268
Summary
This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 5.2) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TMEM107 in Genome Data Viewer
Location:
17p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8172457..8176380, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8078617..8082540, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8075775..8079698, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene period circadian regulator 1 Neighboring gene microRNA 6883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8053229-8053876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8163 Neighboring gene Sharpr-MPRA regulatory region 8148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8057595-8058375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8169 Neighboring gene vesicle associated membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11672 Neighboring gene uncharacterized LOC105371520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8079237-8079848 Neighboring gene small nucleolar RNA, C/D box 118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8079849-8080460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8171 Neighboring gene tRNA-Trp (anticodon CCA) 3-3 Neighboring gene tRNA-Ser (anticodon GCT) 4-3 Neighboring gene microRNA 4521

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC10744

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in craniofacial suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in detection of nodal flow IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054916.1 RefSeqGene

    Range
    5032..8955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351278.2NP_001338207.1  transmembrane protein 107 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC129492, BC070231
    Consensus CDS
    CCDS86572.1
    Related
    ENSP00000436674.1, ENST00000533070.5
    Conserved Domains (1) summary
    pfam14995
    Location:7128
    TMEM107; Transmembrane protein
  2. NM_001351279.2NP_001338208.1  transmembrane protein 107 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC129492
    Conserved Domains (1) summary
    pfam14995
    Location:7122
    TMEM107; Transmembrane protein
  3. NM_001351280.2NP_001338209.1  transmembrane protein 107 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC129492
    Consensus CDS
    CCDS86571.1
    UniProtKB/TrEMBL
    E9PIH0
    Related
    ENSP00000389420.2, ENST00000431792.2
    Conserved Domains (1) summary
    pfam14995
    Location:769
    TMEM107; Transmembrane protein
  4. NM_032354.5NP_115730.2  transmembrane protein 107 isoform 1

    See identical proteins and their annotated locations for NP_115730.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC129492, AF311338
    Consensus CDS
    CCDS11132.1
    UniProtKB/Swiss-Prot
    Q6UX40
    Related
    ENSP00000314116.5, ENST00000316425.9
    Conserved Domains (1) summary
    pfam14995
    Location:7135
    TMEM107; Transmembrane protein
  5. NM_183065.4NP_898888.1  transmembrane protein 107 isoform 2

    See identical proteins and their annotated locations for NP_898888.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC129492, AF311338, BC127649
    Consensus CDS
    CCDS45607.1
    UniProtKB/Swiss-Prot
    A0PJV7, Q6NSE3, Q6UX40, Q6ZRX9, Q96T82
    Related
    ENSP00000402732.2, ENST00000437139.7
    Conserved Domains (1) summary
    pfam14995
    Location:7129
    TMEM107; Transmembrane protein

RNA

  1. NR_147092.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC129492, BC119731

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8172457..8176380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8078617..8082540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)